| exon_id | ENSE00003790431, ENSE00003680367, ENSE00003547346, ENSE00003618465, ENSE00003525972, ENSE00003486661, ENSE00003631185, ENSE00003553724, ENSE00003629514, ENSE00003605080, ENSE00003530900, ENSE000036818 |
| disease_description | Congenital Abnormality,Bladder Neoplasm,Endometrial adenocarcinoma,Tooth Abnormalities,Cervix carcinoma,Malignant neoplasm of thyroid,Craniofacial Dysostosis,Bronchopulmonary Dysplasia,Pituitary Neoplasms,Lobular carcinoma in situ of breast,Synostotic Posterior Plagiocephaly,Disorder of skeletal system,Congenital heart disease,Hypospadias,HIV Infections,Bilateral cataracts (disorder),Contralateral breast cancer,Skin Abnormalities,Double Outlet Right Ventricle,Anaplastic astrocytoma,Thanatophoric Dysplasia,Histiocytoma, Benign Fibrous,Cleft Palate,Endometrial Carcinoma,Sleep Apnea, Obstructive,Nodule,Antley-Bixler Syndrome, Autosomal Dominant,Non-infiltrating lobular carcinoma,Squamous cell carcinoma of skin,Isolated hypoplasia of the right ventricle,impaired motor coordination,Motor Skills Disorders,Malignant tumor of colon,Epithelioma,Chordoma,Fleck corneal dystrophy,Carcinoma, Transitional Cell,Prostatic Neoplasms,Hypochondroplasia (disorder),Multiple Myeloma,ACROCEPHALOPOLYSYNDACTYL |